Varaico: Literature-Extracted Genetic Variants

Gene:CDH15
Variant:p.L595_L596delins
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CDH15

NM_004933.3:p.L595_L596delins

Associated Papers

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Goldenberg A et al.

American Journal of Medical Genetics. Part A, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."